Gene: PTCH2

Alternate names for this Gene: PTC2

Gene Summary: This gene encodes a transmembrane receptor of the patched gene family. The encoded protein may function as a tumor suppressor in the hedgehog signaling pathway. Alterations in this gene have been associated with nevoid basal cell carcinoma syndrome, basal cell carcinoma, medulloblastoma, and susceptibility to congenital macrostomia. Alternatively spliced transcript variants have been described.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.1

Description of this Gene: patched 2

Type of Gene: protein-coding

rs121434397 in PTCH2 gene and Basal Cell Nevus Syndrome PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 18285427 2008 A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

PMID 23479190 2013 Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 21304560 2011 Clinical utility gene card for: Gorlin syndrome.

rs7525308 in PTCH2 gene and Tonometry PMID 30591961 2019 Genome-wide analysis identified 17 new loci influencing intraocular pressure in Chinese population.